Detalhe da pesquisa
1.
A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.
Hum Mol Genet
; 32(5): 764-772, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130215
2.
Exome sequencing revealed USP9X and COL2A1 mutations in a large family with multiple epiphyseal dysplasia.
Bone
; 163: 116508, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907616
3.
Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.
Front Genet
; 13: 1027396, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468022